Incidental Mutation 'R8353:Itprid2'
ID 645597
Institutional Source Beutler Lab
Gene Symbol Itprid2
Ensembl Gene ENSMUSG00000027007
Gene Name ITPR interacting domain containing 2
Synonyms Ssfa2, CS1, CS-1, SPAG13, KRAP
MMRRC Submission 067805-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.493) question?
Stock # R8353 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 79465696-79503310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79475129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 363 (S363P)
Ref Sequence ENSEMBL: ENSMUSP00000107415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111784] [ENSMUST00000111785] [ENSMUST00000111788]
AlphaFold Q922B9
Predicted Effect probably benign
Transcript: ENSMUST00000111784
AA Change: S363P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107414
Gene: ENSMUSG00000027007
AA Change: S363P

DomainStartEndE-ValueType
low complexity region 35 57 N/A INTRINSIC
KRAP_IP3R_bind 144 302 6.78e-81 SMART
low complexity region 357 374 N/A INTRINSIC
low complexity region 423 445 N/A INTRINSIC
low complexity region 743 759 N/A INTRINSIC
Pfam:SSFA2_C 858 1029 7.5e-88 PFAM
low complexity region 1081 1095 N/A INTRINSIC
low complexity region 1144 1156 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111785
AA Change: S363P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107415
Gene: ENSMUSG00000027007
AA Change: S363P

DomainStartEndE-ValueType
low complexity region 35 57 N/A INTRINSIC
KRAP_IP3R_bind 144 302 6.78e-81 SMART
low complexity region 357 374 N/A INTRINSIC
low complexity region 423 445 N/A INTRINSIC
low complexity region 743 759 N/A INTRINSIC
Pfam:SSFA2_C 861 1029 8.9e-83 PFAM
low complexity region 1103 1117 N/A INTRINSIC
low complexity region 1166 1178 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111788
AA Change: S363P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000107418
Gene: ENSMUSG00000027007
AA Change: S363P

DomainStartEndE-ValueType
low complexity region 35 57 N/A INTRINSIC
KRAP_IP3R_bind 144 302 6.78e-81 SMART
low complexity region 357 374 N/A INTRINSIC
low complexity region 423 445 N/A INTRINSIC
low complexity region 743 759 N/A INTRINSIC
Pfam:SSFA2_C 858 1029 7.4e-88 PFAM
low complexity region 1103 1117 N/A INTRINSIC
low complexity region 1166 1178 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display decreased body weight, resistance to diet induced obesity, increased food intake, decreased adipose tissue mass, elevated metabolic rate, abnormal glucose homeostasis, and abnormal hormone levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik G T 9: 101,815,884 (GRCm39) C23F possibly damaging Het
Adam29 T C 8: 56,326,196 (GRCm39) H86R possibly damaging Het
Alas1 C T 9: 106,113,721 (GRCm39) R508Q possibly damaging Het
Albfm1 A T 5: 90,714,360 (GRCm39) R123S possibly damaging Het
Ark2n T C 18: 77,761,604 (GRCm39) E236G probably damaging Het
Bmp3 G A 5: 99,003,282 (GRCm39) probably null Het
Bud13 A G 9: 46,199,499 (GRCm39) T287A probably benign Het
C3 T C 17: 57,519,643 (GRCm39) E1203G probably benign Het
Carmil2 A C 8: 106,416,843 (GRCm39) Q476P probably damaging Het
Ccdc187 T A 2: 26,166,458 (GRCm39) T707S probably damaging Het
Cfap43 A T 19: 47,735,086 (GRCm39) V1435E probably damaging Het
Chrm3 A T 13: 9,927,267 (GRCm39) *590K probably null Het
Commd1 C T 11: 22,928,503 (GRCm39) probably benign Het
Creb3l1 A T 2: 91,821,274 (GRCm39) Y314* probably null Het
Ctc1 T A 11: 68,913,275 (GRCm39) S90R probably benign Het
Dixdc1 T C 9: 50,596,186 (GRCm39) Q413R probably benign Het
Dlg5 T C 14: 24,208,213 (GRCm39) T998A probably benign Het
Dnai4 A G 4: 102,917,113 (GRCm39) I577T possibly damaging Het
Eif1ad14 C T 12: 87,886,323 (GRCm39) S102N probably benign Het
Fam89b A G 19: 5,778,903 (GRCm39) S99P possibly damaging Het
Fbxo30 A G 10: 11,166,479 (GRCm39) I400M probably benign Het
Gad1 A T 2: 70,431,057 (GRCm39) M567L probably benign Het
Gemin5 T C 11: 58,016,065 (GRCm39) S1314G probably benign Het
Gm9195 T G 14: 72,678,201 (GRCm39) I2323L probably benign Het
Gria1 T A 11: 57,133,877 (GRCm39) F585L probably damaging Het
Hbs1l A T 10: 21,185,178 (GRCm39) H200L probably benign Het
Igsf5 A G 16: 96,222,996 (GRCm39) Q360R probably benign Het
Il31ra A T 13: 112,660,717 (GRCm39) V624E probably damaging Het
Iqsec3 T C 6: 121,364,779 (GRCm39) R837G probably damaging Het
Lpl A G 8: 69,348,433 (GRCm39) I221V probably damaging Het
Mink1 T A 11: 70,501,154 (GRCm39) D887E possibly damaging Het
Mmp10 T G 9: 7,508,203 (GRCm39) F443C probably damaging Het
Mmrn1 T A 6: 60,965,361 (GRCm39) Y1131N probably damaging Het
Mrc2 T A 11: 105,223,137 (GRCm39) V460E probably damaging Het
Nicn1 T A 9: 108,170,572 (GRCm39) F57Y probably damaging Het
Nlrp4b A G 7: 10,449,528 (GRCm39) Y577C probably damaging Het
Nrap T C 19: 56,312,352 (GRCm39) T1535A probably damaging Het
Opa1 G A 16: 29,439,686 (GRCm39) R755H probably damaging Het
Phldb2 A G 16: 45,645,385 (GRCm39) S354P probably benign Het
Phykpl T C 11: 51,489,121 (GRCm39) S316P probably damaging Het
Pnpla1 T A 17: 29,077,873 (GRCm39) D11E probably benign Het
Pold2 A G 11: 5,825,104 (GRCm39) F98L probably damaging Het
Prph G A 15: 98,954,657 (GRCm39) R241Q probably benign Het
Rcl1 T C 19: 29,093,159 (GRCm39) I58T possibly damaging Het
Rps6ka2 A G 17: 7,514,151 (GRCm39) N117D probably benign Het
Sars1 G A 3: 108,336,029 (GRCm39) S331L probably benign Het
Scfd1 A C 12: 51,459,374 (GRCm39) K312Q possibly damaging Het
Senp5 A G 16: 31,808,166 (GRCm39) C363R probably benign Het
Senp7 A G 16: 56,008,691 (GRCm39) I1024V probably damaging Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sptbn4 A G 7: 27,103,663 (GRCm39) L1191P probably damaging Het
Stk40 A G 4: 126,022,766 (GRCm39) E180G probably damaging Het
Stxbp5 A T 10: 9,684,792 (GRCm39) V536E probably benign Het
Tex15 G T 8: 34,066,899 (GRCm39) E2110* probably null Het
Thbs4 G A 13: 92,927,325 (GRCm39) P55S probably benign Het
Tmem115 T C 9: 107,411,997 (GRCm39) V107A probably benign Het
Tnfaip6 A C 2: 51,945,879 (GRCm39) I242L probably benign Het
Trabd G T 15: 88,969,616 (GRCm39) A270S possibly damaging Het
Trim30d T A 7: 104,136,947 (GRCm39) I86F probably damaging Het
Trpc7 A G 13: 56,970,372 (GRCm39) V404A probably benign Het
Vmn1r61 A G 7: 5,613,886 (GRCm39) Y143H probably benign Het
Vmn2r18 T A 5: 151,485,373 (GRCm39) D707V probably damaging Het
Vnn3 G A 10: 23,745,443 (GRCm39) R464H probably benign Het
Wdr27 T C 17: 15,112,751 (GRCm39) T652A probably benign Het
Yeats2 C T 16: 20,041,637 (GRCm39) R1176* probably null Het
Other mutations in Itprid2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Itprid2 APN 2 79,487,612 (GRCm39) missense possibly damaging 0.94
IGL00792:Itprid2 APN 2 79,487,807 (GRCm39) missense probably benign 0.01
IGL00900:Itprid2 APN 2 79,490,822 (GRCm39) missense probably damaging 1.00
IGL00902:Itprid2 APN 2 79,490,822 (GRCm39) missense probably damaging 1.00
IGL01682:Itprid2 APN 2 79,465,981 (GRCm39) missense probably damaging 1.00
IGL01683:Itprid2 APN 2 79,501,069 (GRCm39) intron probably benign
IGL01832:Itprid2 APN 2 79,481,762 (GRCm39) missense possibly damaging 0.94
IGL02253:Itprid2 APN 2 79,490,788 (GRCm39) missense probably damaging 1.00
IGL02342:Itprid2 APN 2 79,490,629 (GRCm39) missense probably benign 0.01
IGL02420:Itprid2 APN 2 79,465,986 (GRCm39) missense probably damaging 0.99
IGL02445:Itprid2 APN 2 79,487,842 (GRCm39) missense probably damaging 0.98
IGL02649:Itprid2 APN 2 79,472,303 (GRCm39) splice site probably benign
IGL03242:Itprid2 APN 2 79,473,815 (GRCm39) nonsense probably null
IGL03266:Itprid2 APN 2 79,472,534 (GRCm39) critical splice donor site probably null
IGL03342:Itprid2 APN 2 79,490,796 (GRCm39) missense probably damaging 1.00
IGL03352:Itprid2 APN 2 79,475,445 (GRCm39) missense probably damaging 1.00
R0255:Itprid2 UTSW 2 79,490,810 (GRCm39) missense probably damaging 1.00
R0526:Itprid2 UTSW 2 79,487,690 (GRCm39) missense probably benign 0.01
R0543:Itprid2 UTSW 2 79,474,850 (GRCm39) missense possibly damaging 0.79
R1114:Itprid2 UTSW 2 79,487,873 (GRCm39) missense probably damaging 1.00
R1701:Itprid2 UTSW 2 79,466,394 (GRCm39) missense probably damaging 1.00
R1734:Itprid2 UTSW 2 79,488,166 (GRCm39) missense probably damaging 1.00
R1945:Itprid2 UTSW 2 79,492,996 (GRCm39) missense probably benign 0.03
R2188:Itprid2 UTSW 2 79,475,267 (GRCm39) missense probably benign 0.01
R2941:Itprid2 UTSW 2 79,466,000 (GRCm39) missense probably benign 0.19
R4087:Itprid2 UTSW 2 79,488,691 (GRCm39) nonsense probably null
R4107:Itprid2 UTSW 2 79,475,175 (GRCm39) missense probably damaging 0.97
R4355:Itprid2 UTSW 2 79,472,342 (GRCm39) missense probably benign 0.02
R4497:Itprid2 UTSW 2 79,488,164 (GRCm39) missense probably damaging 1.00
R4615:Itprid2 UTSW 2 79,492,726 (GRCm39) missense probably damaging 0.99
R4726:Itprid2 UTSW 2 79,493,101 (GRCm39) missense probably damaging 1.00
R5818:Itprid2 UTSW 2 79,474,937 (GRCm39) missense probably damaging 1.00
R5889:Itprid2 UTSW 2 79,488,072 (GRCm39) missense probably damaging 1.00
R6169:Itprid2 UTSW 2 79,475,406 (GRCm39) missense probably damaging 0.99
R6337:Itprid2 UTSW 2 79,485,463 (GRCm39) missense probably damaging 1.00
R6677:Itprid2 UTSW 2 79,485,445 (GRCm39) missense possibly damaging 0.92
R6709:Itprid2 UTSW 2 79,475,276 (GRCm39) missense probably benign 0.00
R6855:Itprid2 UTSW 2 79,488,049 (GRCm39) missense probably damaging 1.00
R6856:Itprid2 UTSW 2 79,488,049 (GRCm39) missense probably damaging 1.00
R7075:Itprid2 UTSW 2 79,466,004 (GRCm39) missense probably damaging 0.99
R7319:Itprid2 UTSW 2 79,466,416 (GRCm39) missense probably damaging 1.00
R7414:Itprid2 UTSW 2 79,475,072 (GRCm39) missense possibly damaging 0.95
R7590:Itprid2 UTSW 2 79,488,454 (GRCm39) missense possibly damaging 0.88
R7722:Itprid2 UTSW 2 79,492,689 (GRCm39) missense probably damaging 1.00
R7923:Itprid2 UTSW 2 79,492,959 (GRCm39) nonsense probably null
R8155:Itprid2 UTSW 2 79,475,177 (GRCm39) missense probably benign 0.01
R8175:Itprid2 UTSW 2 79,488,496 (GRCm39) missense probably damaging 1.00
R8237:Itprid2 UTSW 2 79,487,614 (GRCm39) missense probably benign 0.01
R8341:Itprid2 UTSW 2 79,488,062 (GRCm39) missense probably damaging 1.00
R8364:Itprid2 UTSW 2 79,481,787 (GRCm39) missense probably damaging 0.99
R8365:Itprid2 UTSW 2 79,492,689 (GRCm39) missense probably damaging 1.00
R8453:Itprid2 UTSW 2 79,475,129 (GRCm39) missense probably benign 0.01
R8507:Itprid2 UTSW 2 79,475,208 (GRCm39) missense probably benign
R8874:Itprid2 UTSW 2 79,487,684 (GRCm39) missense probably benign
R8953:Itprid2 UTSW 2 79,490,839 (GRCm39) missense probably damaging 1.00
R8978:Itprid2 UTSW 2 79,491,257 (GRCm39) missense probably damaging 1.00
R9033:Itprid2 UTSW 2 79,465,938 (GRCm39) missense probably damaging 0.97
R9067:Itprid2 UTSW 2 79,475,180 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGCAAACCGTCTGATGAAAAC -3'
(R):5'- TGGGCACTTTTCAGCTCACTG -3'

Sequencing Primer
(F):5'- GCAAACCGTCTGATGAAAACACTATC -3'
(R):5'- GACACGCGGCCATCATGAC -3'
Posted On 2020-09-02